|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
|
14635108 |
2003 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
|
14680977 |
2003 |
|
rs149391489
|
|
Fabry Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease.
|
20360539 |
2010 |
|
rs28935490
|
|
Arteriopathic disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
D313Y might broaden the spectrum of hereditary small artery diseases of the brain, which preferably occur in young adults without classical risk factors.
|
23393592 |
2013 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations.
|
27142856 |
2016 |
|
rs104894845
|
|
Transient Cerebral Ischemia
|
|
0.010 |
GeneticVariation
|
BEFREE |
No accumulation of neurologic events in family members of p.A143T </span>patients with stroke/transient ischemic attacks was observed.
|
27142856 |
2016 |
|
rs104894845
|
|
Transient Ischemic Attack
|
|
0.010 |
GeneticVariation
|
BEFREE |
No accumulation of neurologic events in family members of p.A143T </span>patients with stroke/transient ischemic attacks was observed.
|
27142856 |
2016 |
|
rs104894845
|
|
Cerebrovascular accident
|
|
0.020 |
GeneticVariation
|
BEFREE |
No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed.
|
27142856 |
2016 |
|
rs28935197
|
|
Left Ventricular Hypertrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
N215S patients showed later symptom onset (males: p< 0.0001, females: p<0.03), later development of left ventricular hypertrophy (LVH) (median survival without LVH: 41 (non-N215S) vs. 64 (N215S) years, p< 0.0001), later development of proteinuria (median survival without proteinuria 43 (non-N215S) vs 71 years (N215S), p< 0.0001), later occurrence of cerebrovascular events (stroke/ Transient Ischaemic Attacks (TIA); median survival without stroke: 74 years (non-N215S) vs. not reached (N215S), p< 0.02), later decline in renal function to GFR <60 ml/min/1.73m2 (median survival: 56 (non-N215S) vs. 72 (N215S) years, p< 0.01), and greater overall survival (median survival 81 (N215S) vs. 66 (non-N215S) years, p< 0.0006).
|
29621274 |
2018 |
|
rs28935197
|
|
Transient Ischemic Attack
|
|
0.010 |
GeneticVariation
|
BEFREE |
N215S patients showed later symptom onset (males: p< 0.0001, females: p<0.03), later development of left ventricular hypertrophy (LVH) (median survival without LVH: 41 (non-N215S) vs. 64 (N215S) years, p< 0.0001), later development of proteinuria (median survival without proteinuria 43 (non-N215S) vs 71 years (N215S), p< 0.0001), later occurrence of cerebrovascular events (stroke/ Transient Ischaemic Attacks (TIA); median survival without stroke: 74 years (non-N215S) vs. not reached (N215S), p< 0.02), later decline in renal function to GFR <60 ml/min/1.73m2 (median survival: 56 (non-N215S) vs. 72 (N215S) years, p< 0.01), and greater overall survival (median survival 81 (N215S) vs. 66 (non-N215S) years, p< 0.0006).
|
29621274 |
2018 |
|
rs28935197
|
|
Cerebrovascular accident
|
|
0.010 |
GeneticVariation
|
BEFREE |
N215S patients showed later symptom onset (males: p< 0.0001, females: p<0.03), later development of left ventricular hypertrophy (LVH) (median survival without LVH: 41 (non-N215S) vs. 64 (N215S) years, p< 0.0001), later development of proteinuria (median survival without proteinuria 43 (non-N215S) vs 71 years (N215S), p< 0.0001), later occurrence of cerebrovascular events (stroke/ Transient Ischaemic Attacks (TIA); median survival without stroke: 74 years (non-N215S) vs. not reached (N215S), p< 0.02), later decline in renal function to GFR <60 ml/min/1.73m2 (median survival: 56 (non-N215S) vs. 72 (N215S) years, p< 0.01), and greater overall survival (median survival 81 (N215S) vs. 66 (non-N215S) years, p< 0.0006).
|
29621274 |
2018 |
|
rs104894831
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
|
rs869312142
|
|
Fabry Disease
|
|
0.830 |
GeneticVariation
|
BEFREE |
A founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region.
|
31519519 |
2020 |
|
rs797044613
|
|
Fabry Disease
|
|
0.810 |
GeneticVariation
|
BEFREE |
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
|
15492942 |
2004 |
|
rs148158093
|
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD.
|
30246259 |
2019 |
|
rs28935490
|
|
Heart Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
A substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed.
|
19373884 |
2009 |
|
rs104894828
|
|
Fabry Disease
|
|
0.840 |
GeneticVariation
|
BEFREE |
A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease.
|
20961863 |
2011 |
|
rs886044845
|
|
Fabry Disease
|
|
0.710 |
GeneticVariation
|
BEFREE |
A typical mutation for FD (c.424T>C, [C142R]) was detected in one patient.
|
20860754 |
2011 |
|
rs28935197
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S.
|
28351893 |
2017 |
|
rs148158093
|
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs104894845
|
|
Fabry Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs28935490
|
|
Fabry Disease
|
|
0.780 |
GeneticVariation
|
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |
|
rs104894833
|
|
Fabry Disease
|
|
0.800 |
GeneticVariation
|
BEFREE |
All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.
|
23724928 |
2014 |
|
rs28935197
|
|
Chronic kidney disease stage 5
|
|
0.010 |
GeneticVariation
|
BEFREE |
An atypical p.N215S variant of Fabry disease with end-stage renal failure.
|
30023289 |
2018 |
|
rs28935197
|
|
Kidney Failure, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
An atypical p.N215S variant of Fabry disease with end-stage renal failure.
|
30023289 |
2018 |